Association between myasthenia gravis and Alzheimer's disease. / Miastenia gravis y enfermedad de Alzheimer: una asociación a estudio.

INTRODUCTION: Myasthenia gravis (MG) and Alzheimer's disease (AD) are two of the most important diseases where the dysregulation of acetylcholine activity plays a crucial role. In the first, this dysregulation happens at the level of the neu-romuscular junction and in the second, in the central nervous system (CNS). AIM: To analyze the possible relationship between these two pathologies, analyzing the prevalence and the odds ratio of AD within patients previously diagnosed with MG. We will compare these data with respect to the prevalence of AD in the general population. PATIENTS AND METHODS: We examined the data obtained by the electronic medical records of patients in the health care system of Castilla La Mancha using the Natural Language Process provided by a clinical platform of artificial intelligence known as the Savana Manager?. RESULTS: We identified 970,503 patients over the age of 60 years, of which 1,028 were diagnosed with MG. The proportion of the patients diagnosed with AD within this group (4.28%) was greater than the rest of the population (2.82%) (p = 0,0047) with an odds ratio of 1.54 (confidence interval at 95% 1.13-2.08; p = 0.0051) without finding significant differences in the bivariate analysis for the rest of the most important actual known risk factors for AD. CONCLUSION: Our results suggest that there might be an increase in the prevalence of AD in patients previously diagnosed with MG.

TITLE: Miastenia gravis y enfermedad de Alzheimer: una asociación a estudio.Introducción. La miastenia gravis (MG) y la enfermedad de Alzheimer (EA) son dos de las enfermedades neurológicas en cuya fisiopatología interviene la acetilcolina en distintos niveles. En la primera, la alteración de este neurotransmisor se produce en la unión neuromuscular, y en la segunda, en el sistema nervioso central. Objetivo. Analizar la posible relación entre dichas patologías estudiando la prevalencia y la odds ratio de la EA dentro de los pacientes diagnosticados de MG con respecto a la prevalencia de EA en la población general. Pacientes y métodos. Se han examinado datos de las historias clínicas electrónicas del sistema de salud de Castilla-La Mancha utilizando el procesamiento de lenguaje natural a través de la plataforma clínica de inteligencia artificial Savana Manager?. Resultados. Se ha identificado a 970.503 pacientes mayores de 60 años, de los que 1.028 tenían diagnóstico de MG. La proporción de pacientes con diagnóstico de EA dentro de este grupo (4,28%) es mayor que en el resto de la población (2,82%; p = 0,0047), con una odds ratio de 1,54 (intervalo de confianza al 95%: 1,13-2,08; p = 0,0051), sin que se encuentren diferencias significativas en el análisis bivariante del resto de los factores de riesgo para EA más importantes conocidos hasta ahora. Conclusiones. Nuestros resultados sugieren que podría existir un aumento de la prevalencia de EA en pacientes con MG.

A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis.

BACKGROUND AND PURPOSE: We report a novel mutation in exon 8 of the presenilin 1 (PSEN1) gene (V261L) associated with early-onset autosomal dominant Alzheimer's disease and spastic paraparesis. METHODS AND RESULTS: The proband was a woman who developed insidious cognitive decline with predominant memory loss and gait disorder secondary to spasticity at the age of 40. Her brother and her mother had a similar disease in the fifth decade of life. The feature of amnestic presentation with spastic paraparesis is consistent with the majority of mutations in the exon 8 of the PSEN1 1 gene. CONCLUSIONS: Screening for PSEN1 mutations is especially likely to be productive when directed toward persons with positive family history and with age at onset of under 60.

[Iodinated contrast-induced encephalopathy: a pathology that must be borne in mind when carrying out endovascular examinations]. / Encefalopatia por contraste iodado: una patologia que se debe tener en cuenta en el desarrollo de las exploraciones endovasculares.

INTRODUCTION: In recent years there has been an increase in the number of endovascular examinations in the study of both cardiovascular and cerebrovascular diseases. One very infrequent complication is neurotoxicity due to contrast, and it must be suspected within the context of a neurological deficit following such examinations in order to be able to diagnose it. CASE REPORT: A 61-year-old male who presented an epileptic attack and later deficit in the left hemisphere following diagnostic arteriography. After ruling out the possibility of an urgent vascular pathology, he was submitted to a magnetic resonance brain scan with the suspicion of this condition. The clinical signs and symptoms were limited to 72 hours with cortisone therapy. CONCLUSIONS: Contrast-induced encephalopathy covers a wide range of clinical features which, in the vast majority of cases, are self-limiting to 24-72 hours, and within the context of neuronal damage following contrast infusion. Its prognosis is excellent, and diagnostic suspicion is crucial in its treatment.

TITLE: Encefalopatia por contraste iodado: una patologia que se debe tener en cuenta en el desarrollo de las exploraciones endovasculares.Introduccion. En los ultimos años ha aumentado el numero de exploraciones endovasculares en el estudio de la patologia tanto cardiovascular como cerebrovascular. Una de las complicaciones poco frecuentes es la neurotoxicidad por contraste y su sospecha resulta imprescindible en el contexto de un deficit neurologico tras dichas exploraciones para llegar a su diagnostico. Caso clinico. Varon de 61 años que tras una arteriografia diagnostica en el estudio de una hemorragia subaracnoidea presento una crisis epileptica y posteriormente deficit hemisferico izquierdo. Tras descartar una patologia vascular urgente, se realizo una resonancia magnetica cerebral con sospecha de encefalopatia poscontraste. La clinica se limito en 72 horas con corticoterapia. Conclusiones. La encefalopatia por contraste abarca un amplio espectro clinico, en la inmensa mayoria de los casos autolimitado en 24-72 horas, y en el contexto del daño neuronal tras la infusion de contraste. Su pronostico es excelente y la sospecha diagnostica es vital en el tratamiento.

[Chronic progressive external ophthalmoplegia: clinical and electromyographic manifestations in a series of cases]. / Oftalmoplejía externa progresiva crónica: manifestaciones clínicas y electromiográficas en una serie de casos.

INTRODUCTION: Chronic progressive external ophthalmoplegia (CPEO) is a common mitochondrial disease. The different conditions in this group of diseases overlap clinically, enzymatically and genetically. There is no effective treatment. Ptosis improves with corrective surgery involving tarsorrhaphy as a palliative measure. CASE REPORTS: Code numbers were examined in a retrospective study conducted in order to search for patients with ptosis or ophthalmoplegia who had either visited or been admitted to the neurology department over the last 10 years. Data concerning these patients' clinical features and results of complementary tests were collected. Six patients with CPEO were identified, five of whom were females. Ages ranged from 44 to 72 years. All the patients had ptosis, although 50% were asymmetric. Half of them reported mild dysphagia while swallowing liquids. Levels of creatine phosphokinase and acetylcholine antireceptor antibodies were normal. Half the patients showed increased jitter and a muscle biopsy revealed that five of them had ragged red fibres. The most frequent enzyme deficit was complex I and IV deficiency. There were no familial forms; the most common genetic anomaly was single deletion in the mitochondrial deoxyribonucleic acid. CONCLUSIONS: In cases of ptosis and ophthalmoplegia that do not respond to anticholinesterases, knowledge of this condition makes it possible to avoid the use of immunosuppressant drugs, which have important side effects.

[Horner syndrome as the first symptom of nasopharyngeal cancer. Two case reports]. / Sindrome de Horner como primera manifestación del cáncer de cavum. A propósito de dos casos.

INTRODUCTION: Horner syndrome (HS) is produced by damage to the oculosympathetic pathway and gives rise to palpebral ptosis, enophthalmos and myosis. Anhidrosis also occurs in cases in which the lesion is located before the separation of the vasomotor and sudomotor fibres at the start of the internal carotid artery. Nasopharyngeal cancer may damage the cranial nerves, mainly in the cavernous sinus, and very few cases of HS due to infiltration of the tumour into the parapharyngeal space have been reported. CASE REPORTS: Case 1: a 67-year-old male with a 10-day history of HS on the left side without anhidrosis. The aetiological study revealed a nasopharyngeal lymphoepithelioma; the tumour became smaller and HS disappeared following treatment with chemotherapy. Case 2: a 48-year-old male with a 1-week history of HS without anhidrosis, and a 2-month history of deafness and pain in the right ear. The aetiological study showed a nasopharyngeal lymphoepithelioma and serous otitis. The tumour became smaller and HS disappeared following treatment with chemotherapy. CONCLUSIONS: It is important to carry out studies of the nasopharynx in patients with this syndrome to allow early diagnosis and treatment of a region that is not readily available for direct examination. The existence of an associated pathology in the ear or the paranasal sinuses strongly suggests that its origins lie in the nasopharynx.

[Recurrent Tolosa-Hunt syndrome with normal neuroimaging. A report of three cases]. / Síndrome de Tolosa-Hunt de repetición con neuroimagen normal. Descripción de tres casos.

INTRODUCTION: Tolosa-Hunt syndrome is caused by an unspecific inflammation in the cavernous sinus or superior orbital fissure. Recurrence occurs in 40% of cases. Magnetic resonance (MR) of the head and orbital phlebography can reveal characteristic data, although diagnosis is reached by exclusion according to International Headache Society criteria. Corticoids are the preferred treatment, since their use gives rise to the disappearance of the clinical condition in a few days. CASE REPORT: We describe the cases of three patients with recurrent Tolosa-Hunt syndrome and MR images of the head with normal contrast. Case 1: a 52-year-old male with paralysis of the oculomotor nerve with recurrence on the contralateral side. Case 2: a 42-year-old female with recurrent paralysis of the abducent nerve. Case 3: a 34-year-old male with involvement of the oculomotor nerve, optic nerve and the first branch of the trigeminal nerve with recurrence of the ophthalmoplegia. In all cases the clinical symptoms disappeared with the use of corticoid therapy. CONCLUSIONS: The oculomotor disorder is produced by nerve infiltration and not by compression. The time for recurrence varies largely, and the clinical condition in the recurrence is usually milder owing to the fact that diagnosis is reached and treatment is started earlier. The absence of alterations in the MR of the head does not rule out the existence of Tolosa-Hunt syndrome, even in cases of recurrence, and these disorders therefore should not be included in the diagnostic criteria.

[Mumps meningitis: a case mix in a Neurology Department]. / Meningitis urliana: casuística en un servicio de Neurología.

INTRODUCTION: Parotiditis is a viral infection that produces a non-suppurative inflammation of the parotid glands, although it may affect other salivary glands, the testicles, meninges and the pancreas. Clinical meningitis appears in 1-10% of cases, normally between the 4th and the 10th day after infection of the parotid glands. In this study, we analyse the clinical and analytic characteristics of the patients admitted to our Neurology Department over the last 12 years. CASE REPORTS: A retrospective study was conducted by analysing the hospital discharge reports. The eligibility criterion was the existence of an acute meningeal syndrome linked to the presence of positive IgM titres for the parotiditis virus. In all, 13 cases were found, with a mean age of 16.5 years, and most of them were males (92.3%). Parotiditis preceded meningitis in all our patients with an average of 8.3 days, while orchiepididymitis, when it occurred, appeared at the same time or after meningitis. Analysis of the cerebrospinal fluid showed a lymphocyte profile with glycorrhachia above 40%, except in two cases that showed a non-persistent neutrophilic profile. There was a transient 30.7% reduction in prothrombin time in the patients. No sequelae were observed. CONCLUSIONS: Vaccination campaigns have drastically reduced the number of cases of meningitis due to this germ since the second half of the 90s. This virus must be borne in mind in cases of meningitis in young males who come from underdeveloped countries.

[The prevalence of dementia and its main subtypes in subjects older than 65 years: impact of occupation and education. The Toledo Study]. / Prevalencia de demencia y de sus subtipos principales en sujetos mayores de 65 años: efecto de la educación y ocupación. Estudio Toledo.

BACKGROUND: To assess the prevalence of dementia and its subtypes in a population with a low level of education, and to determine whether there is any association between occupation, education and dementia. SUBJECTS AND METHOD: Cross-section study of the population, with a sample of 3,214 individuals representative of the population of Toledo, Spain, aged 65 years and older. The Mini-Mental State Examination (MMSE) was used in the first phase of the study to detect those individuals with cognitive deterioration. The second phase consisted of a semi-structured clinical interview and neuropsychological evaluation. Dementia and sub-types of dementia were determined using well-established diagnostic criteria. The process was applied using an algorithm to optimise diagnostic agreement. RESULTS: The overall prevalence of dementia, Alzheimer's disease and vascular dementia amounted to 7.6, 4.6 and 1.8%, respectively. A direct relationship was detected between these three entities and age. The prevalence of dementia was greater in women, illiterate persons and occupations which require less skill. Once adjustment had been made for other socio-demographic variables, only age was associated with the presence of dementia. CONCLUSIONS: The overall prevalence of dementia, Alzheimer's type dementia and vascular dementia increases with age. No clear association was found between education, occupation and dementia.

[An analysis of the health care activity of on-call neurologists and its repercussions in the hospital]. / Análisis de la actividad asistencial en las guardias de neurología y su repercusión en el hospital.

INTRODUCTION: The implementation of an on-call neurology service at our hospital prompted us to analyse the health care it offers. PATIENTS AND METHODS: We conducted a retrospective descriptive study by reviewing the status report of the on-call services performed between 15 April 2002 and 14 April 2003. The data collected included the age, sex, day of the week, month, requesting service, destination and pathology grouped under different codes to facilitate their later analysis. RESULTS: A total of 1910 patients were attended with a mean age of 53 and with no differences between sexes. The service that most often requested evaluation was casualty with over 80% of cases. The most frequently involved pathologies were headaches (19.7%), followed by ischemic strokes (16.1%) and epilepsy (13.4%). In 12.3% of cases no neurological pathology was observed. The percentage of direct hospital discharges was 29.16%, while that of admissions to neurology was lower (23.56%). Patients requiring further follow-up visits to Neurology were remitted normally (12.56%), compared to those who were in need of preferential treatment (4.45%). CONCLUSIONS: The need for a duty neurologist has provided our hospital with a better evaluation of neurological pathologies and a more rational use of complementary tests. Many of the patients who were evaluated were given a direct hospital discharge. This has led to a drop in the number of admissions to Neurology by almost 30% and a reduction in the mean length of time spent in hospital.

[Transcranial Doppler during transient global amnesia]. / Ecografía Doppler transcraneal durante una amnesia global transitoria.

INTRODUCTION: Transient global amnesia is a syndrome mainly characterised by an anterograde memory deficit, which disappears in less than 24 hours without leaving any kind of sequelae. Its aetiopathogenesis is still unclear. The ischemic theory became important after hypoperfusion was observed in the mesial region of the temporal lobe using different imaging techniques, although recently the use of diffusion-weighted magnetic resonance imaging by other authors has not revealed these alterations in the cerebral blood flow. CASE REPORT: We report on a transcranial Doppler study carried out in a female patient during the acute phase of the amnesia, with no evidence of hemodynamic alterations or significant asymmetries. Repeating the test after clinical recovery offered values that were similar to those of the previous study. CONCLUSIONS: It is posited that the basis of this process would not be related to ischemia but instead to a mechanism enabling spreading neurogenic depression that is similar to that which takes place during a migraine attack. Treatment with antiplatelet drugs would not, therefore, be recommended but calcium antagonists or beta blockers would be useful in preventing the clinical picture from being repeated.

[Drug-induced movement disorders]. / Trastornos del movimiento inducidos por fármacos.

INTRODUCTION: Pharmaceutical preparations with the capacity to block dopamine receptors at the brain level quite often cause secondary movement disorders, but are not the only cause. These movement disorders can be due to a poor or difficult capacity to carry out movements similar to the type observed in idiopathic Parkinson's disease (parkinsonism secondary to drugs) or also because of excess movement with acute or chronic dystonic or choreic clinical pictures. Why the same drugs cause apparently opposing effects is not altogether clear, although it is supposed that individual factors related to the pharmacokinetics, pharmacodynamics and sensitivity of different types of sub-receptors play a crucial role. DEVELOPMENT: We describe the most frequent groups of symptoms, divided into two parts depending on whether the disorder is hyper- or hypokinetic, and the drugs that are most commonly responsible for those clinical pictures are also discussed. The most frequent disorders caused by excessive movement are acute dyskinesia, akathisia and tardive dyskinesia. The disorder caused by scarcity of movement is a parkinsonian picture that it may be impossible to distinguish from idiopathic Parkinson's disease. CONCLUSIONS: An awareness of the possible existence of these disorders is essential for the clinical suspicion and diagnosis. On most occasions, withdrawing the causing drug reverts the symptoms without the need for complicated or costly diagnostic studies.

[Type 1 glutaric aciduria: clinical and therapeutic implications]. / Aciduria glutárica tipo 1: implicaciones clínicas y terapéuticas.

INTRODUCTION: Type 1 glutaric aciduria is a genetic disease that produces a deficiency in the glutaryl CoA dehydrogenase enzyme. This deficiency entails an elevation of glutaric acid and 3-OH glutaric acid. Dystonia is the predominant symptom. The symptoms appear after an asymptomatic period during the first months of life. It may present chronically and insidiously or acutely as metabolic encephalopathy during a banal infectious condition or vaccination. Treatment with Carnitine, protein restriction and early approach of the hypermetabolism conditions has been shown to be effective in decreasing the encephalopathy episodes in the first years of life. CASE REPORT: A 16 year old woman with macrocrania and picture of insidious onset of left hemidystonia from 6 months of age. Early treatment was begun as she had a sister suffering from type 1 glutaric aciduria. She has a clinical picture with less seriousness than her sister even though both have the same genotype. CONCLUSIONS: This disease must be considered when there is dystonic cerebral palsy and paternal consanguinity. Early onset of treatment could entail a decrease in the symptoms even in cases of insidious initiation. This would suggest therapeutic maintenance even after having passed the age in which acute encephalopathies occur.

[Gliomatosis cerebri: evolution to glioblastoma multiforme]. / Gliomatosis cerebri: evolución a glioblastoma multiforme.

INTRODUCTION: Gliomatosis cerebri is a neoplastic disorder characterized by diffuse infiltration of glial cells with relative conservation of the underlying structures. Seizures, headache and behavior disorders are generally the initial manifestations. CLINICAL CASE: A 38 year-old male who had complex partial seizures and behavior disorder of three months' evolution. The brain magnetic resonance imaging showed hyperintense lesions in T2 suggestive of gliomatosis cerebri, this being confirmed with the brain biopsy. Several months later, he suffered rapid clinical deterioration, observing the development of a glioblastoma multiforme over the lesion. CONCLUSIONS: In spite of its rareness, gliomatosis cerebri should be taken into account in the differential diagnoses of diffuse infiltrative lesions of the white matter. Rapid evolution clinical deterioration and the appearance of focal lesions that capture contrast should make us suspect a transformation to lesions of greater malignancy.